| First Author | Noben-Trauth K | Year | 2003 |
| Journal | Nat Genet | Volume | 35 |
| Issue | 1 | Pages | 21-3 |
| PubMed ID | 12910270 | Mgi Jnum | J:86905 |
| Mgi Id | MGI:2682449 | Doi | 10.1038/ng1226 |
| Citation | Noben-Trauth K, et al. (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35(1):21-3 |
| abstractText | Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice. |
